Submissions for variant NM_000051.4(ATM):c.2908C>T (p.Leu970=)

dbSNP: rs1060504260

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463142	SCV000558289	likely benign	Ataxia-telangiectasia syndrome	2023-11-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000567194	SCV000660484	likely benign	Hereditary cancer-predisposing syndrome	2015-09-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV000567194	SCV001351774	likely benign	Hereditary cancer-predisposing syndrome	2018-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001591120	SCV001823321	uncertain significance	not provided	2024-01-29	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4	RCV000567194	SCV002532952	uncertain significance	Hereditary cancer-predisposing syndrome	2021-08-18	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV004591331	SCV005085082	benign	Familial cancer of breast	2024-05-10	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.